E66K (p.Glu66Lys) variant of PIK3CD (O00329)
E66K (p.Glu66Lys) in PIK3CD (O00329) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- NCI-TCGA Cosmic COSV6313
- cosmic curated COSV63130
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.29
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available